Medicine:Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome
From HandWiki
| Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome | |
|---|---|
| Other names | Suarez-Stickler syndrome |
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| Wavy defects of the tibial cortex and a lesion of the fibular cortex in a 4-and-a-half year old patient with Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome | |
| Specialty | Medical genetics |
| Symptoms | Bone abnormalities |
| Usual onset | Birth |
| Duration | Lifelong |
| Causes | Genetic mutation |
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia syndrome is a rare genetic bone disorder which is characterized by the presence of wormian bones in the skull, dentinogenesis imperfecta, recurrent bone fractures, hypertelorism, and eye puffiness.[1][2] This disorder is unique from osteogenesis imperfecta because of the presence of cortical defects and the absence of defective collagen or osteopenia.[3] It is not exactly known whether this condition is autosomal dominant or autosomal recessive.
It has been described in 2 non-consanguineous families.[4][5]
References
- ↑ "Cortical defects wormian bones and dentinogenesis imperfecta - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Wormian bone multiple fractures dentinogenesis imperfecta skeletal dysplasia" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166277.
- ↑ "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia (Concept Id: C1858032) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/387969.
- ↑ "Entry - 604922 - Cortical defects, wormian bones, and dentinogenesis imperfecta - OMIM". https://omim.org/entry/604922#2.
- ↑ Moog, U.; Maroteaux, P.; Schrander-Stumpel, C. T. R. M.; Ooij, A. van; Schrander, J. J. P.; Fryns, J. P. (1999-11-01). "Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?" (in en). Journal of Medical Genetics 36 (11): 856–858. doi:10.1136/jmg.36.11.856. ISSN 0022-2593. PMID 10544232. PMC 1734253. https://jmg.bmj.com/content/36/11/856.
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